Mutation screening in genes related to Amyotrophic Lateral Sclerosis

• Grant number: 13/02136-7
• Support type: Scholarships in Brazil - Scientific Initiation
• Effective date (Start): May 01, 2013
• Effective date (End): April 30, 2014
• Field of knowledge: Biological Sciences - Genetics
• Principal Investigator: Mayana Zatz
• Grantee: Bárbara de Bellis
• Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Amyotrophic lateral sclerosis, a motor neuron disease, is presented in a fast, progressive and fatal. Affects both upper and lower motor neurons in the brain and spinal cord, causing death of these neurons and posterior muscle degeneration. Although most are late onset, there are cases of juvenile onset. In addition to other environmental factors that are now being associated with the disease, many genes are being bandied about as susceptibility genes. The best known are: SOD1, TARDBP, ANG, FUS, VAPB, among others. The intention of this work is to discover variants in candidate genes that may be associated with later disease. For the methods that will be used for direct sequencing and High Resolution Melting (HRM). The genes that undergo the screening process will be the FUS (Fused in Sarcoma), TARDBP (TAR DNA binding protein), and UBQLN2 (Ubiquilin 2).